Open AccessCytogenetic study of 50 Brazilian patients with primary myelodysplastic syndrome
Author(s) -
Teresa de Souza Fernandez,
Maria Luíza M. Silva,
Jorge Moreira de Souza,
Daniel Tabak,
Eliana Abdelhay
Publication year - 1997
Publication title -
brazilian journal of genetics
Language(s) - Portuguese
Resource type - Journals
eISSN - 1678-4502
pISSN - 0100-8455
DOI - 10.1590/s0100-84551997000100016
Subject(s) - chronic myelomonocytic leukemia , refractory anemia , myeloid leukemia , karyotype , anemia , biology , myelodysplastic syndromes , sideroblastic anemia , cytogenetics , refractory (planetary science) , medicine , leukemia , gastroenterology , immunology , bone marrow , genetics , gene , chromosome , astrobiology
In this work we analyzed cytogenetically 50 patients with primary myelodysplastic syndrome from several hospitals of Rio de Janeiro, Brazil. The frequency of cytogenetic abnormalities was 32%. Patients with refractory anemia, or refractory anemia with ringed sideroblasts, presented normal karyotypes or single abnormalities such as del(5q) or -Y, while patients with refractory anemia with an excess of blasts, refractory anemia with an excess of blasts in transformation or chronic myelomonocytic leukemia showed complex karyotypes and single abnormalities involving chromosomes 7 or 8, which are related to a bad prognosis and an elevated risk of evolution to acute myeloid leukemia. Neste trabalho foram estudados citogeneticamente 50 pacientes de diversas unidades hospitalares do Rio de Janeiro, Brasil, diagnosticados com síndrome mielodisplásica primária. Os dados obtidos mostraram uma freqüência de anomalias cromossômicas de 32% nestes pacientes, sendo as anomalias mais encontradas a del(5q) (10%), -7 (6%) e +8 (4%). Pacientes com anemia refratária ou anemia refratária com sideroblastos em anel apresentaram cariótipos normais ou com deleções simples como del(5q) ou -Y, enquanto pacientes com anemia refratária com excesso de blastos, anemia refratária com excesso de blastos em transformação e leucemia mielomonocítica crônica apresentaram cariótipos complexos ou com anomalias simples do tipo monossomia do 7 ou trissomia do 8, tendo um alto índice de evolução para leucemia mielóide aguda